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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1708349 | Hereditary Diffuse Gastric Cancer | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C1708371 | Histiocytoid Cardiomyopathy | IL1RL1 | 9173 | interleukin 1 receptor like 1 | Q01638 |
| C1708716 | Pericardial Solitary Fibrous Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1720189 | Episodic Ataxia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C1720189 | Episodic Ataxia | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1720189 | Episodic Ataxia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C1720416 | Episodic ataxia type 2 (disorder) | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1720779 | Apolipoprotein C-II Deficiency (disorder) | LPL | 4023 | lipoprotein lipase | P06858 |
| C1720816 | Endometrial Diseases | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1720821 | Membranoproliferative Glomerulonephritis, Type III | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C1720830 | Painful Bladder Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1720830 | Painful Bladder Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1720830 | Painful Bladder Syndrome | ACAN | 176 | aggrecan | P16112 |
| C1720830 | Painful Bladder Syndrome | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C1720830 | Painful Bladder Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1720830 | Painful Bladder Syndrome | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1720830 | Painful Bladder Syndrome | SELE | 6401 | selectin E | P16581 |
| C1720830 | Painful Bladder Syndrome | SFTPD | 6441 | surfactant protein D | P35247 |
| C1720830 | Painful Bladder Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1720830 | Painful Bladder Syndrome | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1720860 | Familial Partial Lipodystrophy, Type 2 | LPL | 4023 | lipoprotein lipase | P06858 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720862 | Congenital Generalized Lipodystrophy Type 1 | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1720863 | Congenital Generalized Lipodystrophy Type 2 | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
